MYF6

MYF6
Identifiers
Aliases	MYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDs	OMIM: 159991; MGI: 97253; HomoloGene: 1850; GeneCards: MYF6; OMA:MYF6 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q21.31 Start 80,707,634 bp[1] End 80,709,474 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D1|10 55.96 cM Start 107,328,714 bp[2] End 107,330,598 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glutes Skeletal muscle tissue of rectus abdominis triceps brachii muscle gastrocnemius muscle biceps brachii muscle of thigh deltoid muscle thoracic diaphragm Skeletal muscle tissue of biceps brachii quadriceps femoris muscle Top expressed in muscle of thigh temporal muscle medial head of gastrocnemius muscle sternocleidomastoid muscle triceps brachii muscle digastric muscle intercostal muscle soleus muscle extraocular muscle quadriceps femoris muscle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding E-box binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm RNA polymerase II transcription regulator complex nucleus Biological process somitogenesis cell differentiation regulation of transcription, DNA-templated positive regulation of muscle cell differentiation regulation of transcription by RNA polymerase II muscle cell fate commitment muscle organ development transcription by RNA polymerase II positive regulation of skeletal muscle fiber development multicellular organism development positive regulation of transcription, DNA-templated positive regulation of myoblast fusion skeletal muscle tissue regeneration positive regulation of myoblast differentiation muscle tissue morphogenesis skeletal muscle cell differentiation negative regulation of transcription, DNA-templated skeletal muscle tissue development positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4618 17878 Ensembl ENSG00000111046 ENSMUSG00000035923 UniProt P23409 P15375 RefSeq (mRNA) NM_002469 NM_008657 RefSeq (protein) NP_002460 NP_032683 Location (UCSC) Chr 12: 80.71 – 80.71 Mb Chr 10: 107.33 – 107.33 Mb PubMed search [3] [4]
Wikidata
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Myogenic factor 6 (also known as Mrf4 or herculin) is a protein that in humans is encoded by the MYF6 gene. ^[5] This gene is also known in the biomedical literature as MRF4 and herculin. MYF6 is a myogenic regulatory factor (MRF) involved in the process known as myogenesis.^[6][7]

Function

MYF6/Mrf4 is a member of the myogenic factor (MRF) family of transcription factors that regulate skeletal muscle myogenesis and muscle regeneration. Myogenic factors are basic helix-loop-helix (bHLH) transcription factors. MYF6 is a gene that encodes a protein involved in the regulation of myogenesis. The precise role(s) of Myf6/Mrf4 in myogenesis are unclear, although in mice it is able to initiate myogenesis in the absence of Myf5 and MyoD, two other MRFs.^[8] The portion of the protein integral to myogenesis regulation requires the basic helix-loop-helix (bHLH) domain that is conserved among all of the genes in the MRF family.

MYF6 is expressed exclusively in skeletal muscle, and it is expressed at a higher levels in adult skeletal muscle than all of the other MRF family genes. In mouse, Myf6/Mrf4 differs somewhat from the other MRF genes due to its two-phase expression. Initially, Myf6 is transiently expressed along with Myf-5 in the somites during the early stages of myogenesis. However, it is more noticeably expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.^[9]

The MYF6 gene is physically linked to the MYF5 gene on chromosome 12, and similar linkage is observed in all vertebrates. Mutations in the mouse Myf6 gene typically exhibit reduced levels of Myf5.^[10] Despite reductions in muscle mass of the back and defective rib formation, Myf6 mutants still exhibit fairly normal skeletal muscle. This demonstrates that Myf6 is not essential for the formation of most myofibers, at least in the strains of mice tested.

In zebrafish, Myf6/Mrf4 is expressed in all terminally differentiated muscle examined, but expression has not been reported in muscle precursor cells.^[11]

Clinical significance

Mutations in the MYF6 gene are associated with autosomal dominant centronuclear myopathy (ADCNM) and Becker's muscular dystrophy.^[12]

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

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